Variant report

Variant	rs538997591
Chromosome Location	chr12:49686722-49686723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr12:49686318-49689281	HEK293	kidney:	n/a	chr12:49687857-49687865
2	ZNF263	chr12:49686189-49687666	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr12:49686663-49687585	PFSK-1	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
2	chr12:49686580..49692358-chr12:49712251..49718367,13	MCF-7	breast:
3	chr12:49667022..49669779-chr12:49685141..49687257,2	K562	blood:
4	chr12:49685493..49694205-chr12:49728829..49734805,16	K562	blood:
5	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
6	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
7	chr12:49685018..49687263-chr12:49715369..49717175,2	K562	blood:
8	chr12:49667022..49671096-chr12:49685141..49687523,3	K562	blood:
9	chr12:49686386..49687917-chr12:49689353..49691051,2	MCF-7	breast:
10	chr12:49684454..49687869-chr12:49714567..49717463,3	K562	blood:
11	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
12	chr12:49665854..49668915-chr12:49685671..49689413,3	MCF-7	breast:
13	chr12:49654800..49660850-chr12:49685742..49692441,19	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1QL4-1	chr12:49686647-49687484	NONHSAT028095

No data

Variant related genes	Relation type
PRPH	TF binding region
ENSG00000186897	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000258232	Chromatin interaction
ENSG00000258334	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	esv19135	chr12:49676002-49690399	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv558834	chr12:49676010-49691567	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv826367	chr12:49686493-49691709	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49678200-49686800	Weak transcription	HSMM	muscle
2	chr12:49682200-49686800	Weak transcription	HSMMtube	muscle
3	chr12:49682800-49686800	Weak transcription	Hela-S3	cervix
4	chr12:49682800-49687000	Weak transcription	Right Atrium	heart
5	chr12:49683200-49687000	Weak transcription	NHEK	skin
6	chr12:49683400-49686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:49683400-49686800	Weak transcription	HMEC	breast
8	chr12:49685600-49686800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr12:49686000-49687200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:49686200-49687000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr12:49686200-49687000	Enhancers	Stomach Mucosa	stomach
12	chr12:49686200-49687600	Enhancers	NHLF	lung
13	chr12:49686200-49687800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr12:49686200-49687800	Enhancers	K562	blood
15	chr12:49686400-49687000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr12:49686400-49687000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr12:49686400-49687800	Enhancers	Duodenum Mucosa	Duodenum
18	chr12:49686400-49688000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:49686400-49688800	Enhancers	A549	lung
20	chr12:49686600-49686800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:49686600-49686800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:49686600-49686800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr12:49686600-49686800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr12:49686600-49687000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr12:49686600-49687000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:49686600-49687000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:49686600-49687000	Bivalent Enhancer	Fetal Lung	lung
28	chr12:49686600-49687000	Enhancers	Stomach Smooth Muscle	stomach
29	chr12:49686600-49687200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr12:49686600-49687200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:49686600-49687200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr12:49686600-49687200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:49686600-49687600	Enhancers	Gastric	stomach
34	chr12:49686600-49687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:49686600-49688800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:49686600-49689800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr12:49686600-49692000	Bivalent Enhancer	Placenta	Placenta

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